Agenesis of the corpus callosum with peripheral neuropathy
Agenesis of the corpus callosum with peripheral neuropathy
Definition
Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.
Also known as agenesis of the corpus callosum with peripheral neuropathy, Andermann syndrome, Charlevoix disease, corpus callosum agenesis-neuronopathy syndrome, hereditary motor and sensory neuropathy with agenesis of the corpus callosum, peripheral neuropathy associated with agenesis of the corpus callosum — per MONDO